CLEFT RR- New app to Calculate Recurrence Risk in Cleft lip and Palate.

OBJECTIVE: To describe the Cleft Recurrence Risk (Cleft RR) App, designed to be used on genetic counseling for cleft lip and/ or palate. DESIGN: A validation study, single cohort. SETTING: Tertiary care children's Hospital. PATIENTS, PARTICIPANTS: The manual obtained the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center. INTERVENTIONS: The application for genetic counseling for cleft lip and/ or palate is designed to calculate quickly the recurrence risk considering the ancestry, cleft type, sex, and family history and thus encourage the implementation of genetic counseling in cleft lip and palate centers around the world. MAIN OUTCOME MEASURE(S): The data were submitted to the Bland-Altman statistics. RESULTS: After defining parameters the application development follows the steps: development, prototyping, and documentation. The validation of the calculated data was performed by comparing the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center obtained by the manual method with the results obtained by the mobile app method; the data were submitted to the Bland-Altman statistics and a high concordance was found. CONCLUSIONS: The mobile app for use by healthcare professionals proved to be simple to use, easy to apply, and provided accurate results. Cleft Recurrence Risk is an application for smartphones developed for genetic counseling in cleft lip and palate, supplementary use by health professionals, and should not replace professional performance.

COMT rs4818 less common allele is associated with psychological and psychiatric worse indicators in a cohort of individuals born with cleft lip and palate.

OBJECTIVE: Individuals born with cleft lip and palate may face difficulties in speech function, nutrition, facial aesthetics, and long-term care. These difficulties may increase the risk of psychological and psychiatric diseases. This work aimed to test if the variant allele of COMT was carried more frequently among individuals that have psychological and psychiatric outcomes within a cohort of patients born with cleft lip and palate. METHOD: DNA extraction from saliva of two hundred and fifteen individuals born with cleft lip with and/or palate and genotyping was performed, and the frequency of COMT rs4818 alleles was determined. The domain 'Psychological Function' of Cleft-Q™ was used to generate scores for analysis. The scores were computed, and differences in genotype or allele frequencies between individuals with psychological function scores 60 or above and 59 or below were compared. The history of psychiatric illness (family history of psychiatric disease or self-reported psychiatric illness) was registered. RESULTS: Genotype and allele frequencies were compared between individuals with and without a family history of psychiatric illness. Individuals with lower Psychological Function (Cleft-Q™) scores were more likely to be GG (P = .04) or carriers of allele G (P < .001). The reported psychiatric illness and positive family history of psychiatric illness were compared to COMT rs4818 allele and genotype frequencies of individuals without these indicators, and individuals with psychiatric illness and positive family history of psychiatric illness were more likely to carry allele G (P = .03 and P = .008, respectively). CONCLUSION: The study confirms previously suggested role of COMT rs4818 in psychiatric and psychological outcomes in a distinct cohort of patients born with cleft lip and palate.

Use of collaborative learning as atool to evaluate syndromic craniofacial anomalies / Uso da aprendizagem colaborativa como ferramenta para avaliar anomalias craniofaciais sindrômicas

Almost 30% of oral cleftsare associated with other structural abnormalities.However, little is known on orofacial characteristics related tothese cases since they are not systematically reported. To close this gap, we developed a collaborative learning approach supported by an interprofessional team aiming to systematicallydescribe oral findings and impactthe training of future professionals that hopefully will incorporate these descriptionsintotheir clinical practice. The methodological proposal consisted of small group sessions focusing on a particular syndrome or group of syndromes followed by examiningpatients with those conditions. Twenty cases were examined and studied over one semester andaset of conditions to be identified in the orofacial regionwasdefined. Here, we present a guideline that we suggest that dentists and dental institutions use. We also present the advantages of using collaborative learning as a tool in the training of the clinician (AU).

Quase 30% das fissuras orais estão associadas a outras anormalidades estruturais. No entanto, pouco se sabe sobre as características orofaciais relacionadas a esses casos, uma vez que não são relatados de forma sistemática. Para fechar essa lacuna, desenvolvemos uma abordagem de aprendizagem colaborativa apoiada por uma equipe interprofissional com o objetivo de descrever sistematicamente os achados orais e impactar o treinamento de futuros profissionais que, esperançosamente, irão incorporar essas descrições em sua prática clínica. A proposta metodológica consistia em sessões de pequenos grupos enfocando uma determinada síndrome ou grupo de síndromes seguidas de exame de pacientes com essas condições. Vinte casos foram examinados e estudados ao longo de um semestre e foi definido um conjunto de condições a serem identificadas na região orofacial. Aqui, apresentamos uma diretriz que sugerimos que os dentistas e instituições odontológicas utilizem. Também apresentamos as vantagens de usar a aprendizagem colaborativa como uma ferramenta no treinamento do clínico (AU).

Multiple Structural Microform Defects Suggest Role of Modifier Genes.

ABSTRACT: One of the biggest challenges in clinical genetics is establishing associations between specific germline mutations and the resulting spectrum of phenotypes. The careful characterization of clinical presentations continues to be a tool for establishing these genotype phenotype correlations. The authors intend, by presenting a case study, proposing that the concomitant occurrence of a combinations of mild structural anomalies in the same individual may be due to changes in genes that can be linked by related pathways. A new born with cleft lip and palate was referred at the Cleft Lip and Palate Center. The anamnese was performed and collected data of familiar history, parental consanguinity, and information about pregnancy period. The careful characterization of clinical presentations and the genetic pathways was studied. It is possible that there is no single mutation that can be clearly identified as the etiology of the combination of the defects displayed in the present case.

Risk factors for anterior open bite: A case-control study.

BACKGROUND: Anterior open bite (AOB) is noteworthy because it is a complex dysplasia, and clinical studies on this malocclusion are usually epidemiological studies or experimental models with small samples and no control group, which renders the data on AOB incomplete and therefore inconclusive. The objective this study was to assess the risk factors involved in developing AOB. MATERIALS AND METHODS: A case-control study was provided with a total of 96 lateral cephalometric radiographs of male and female patients aged between 8 and 14 years were used, regardless of facial type. The dependent variable was the presence or absence of AOB, which divided the participants into case and control groups, respectively; these groups were matched for gender and age. The case and control groups data were analyzed by descriptive and inferential analysis by binary logistic regression using at the 5% significance level. RESULTS: The occurrence of AOB was associated with the presence of deleterious oral habits (P = 0.014; Chi-square test) and was approximately three times (odds ratio = 3.04) more likely to occur in participants with AOB. No significant association between the presence of mouth breathing and the occurrence of AOB was found (P = 0.151; Chi-square test). The odds associated with tongue interposition were 10.51 times higher than those of participants with no such deglutition. The odds associated with the dolichofacial pattern were 5.74 times those of participants with a nondolichofacial pattern. CONCLUSION: Tongue interposition and dolichocephalic facial pattern were risk factors for developing AOB.

Analysis of permanent second molar development in children born with cleft lip and palate.

OBJECTIVE: The study of dental development in individuals born with cleft lip and palate (CLP) serves to determine when orthodontic intervention should start. To evaluate the permanent second molar development in children born with cleft lip and palate according to Demirjian's and Nolla's methods. METHODOLOGY: Out of a total of 513 digital panoramic radiographs, 113 pairs of children aged 3 to 16 years were selected. The exams were from children born with or without cleft lip and palate, of the same sex, with an age difference of up to 30 days. The images were analyzed by three examiners and reliability was checked through intra-examiner agreement by the Kappa test. The data were analyzed by Wilcoxon's and Mann-Whitney tests according to each dataset. RESULTS: The findings indicated delayed development of the permanent second molars in children with CLP (P<0.001). The development of the right permanent second molar was delayed compared to the left molar in children with CLP. Moreover, mandibular teeth showed significantly earlier development than maxillary teeth in both the case and control groups. There was no significant difference in the development of permanent second molars between sexes. CONCLUSION: Children with CLP presented delay in the development of permanent second molars.

Management of Oronasal Fistulas in Patients With Cleft Lip and Palate.

BACKGROUND: The oronasal fistula in cleft patients is one of the complications that can be found after primary surgeries due to a failure of healing of the surgical repair that causes the communication between the oral and nasal cavities. A number of procedures can be implemented to correct the fistula and it is not clear if a particular technique is the best to be recommended. OBJECTIVE: This study aims to systematically analyze the scientific evidence regarding the treatment of oronasal fistulas located in the lingual-alveolar and labial-alveolar regions in patients with cleft lip and palate who have undergone primary surgeries. MATERIAL AND METHODS: A bibliographic search of articles published until September 2018 without restricted year and language of publication, in PubMed (Medline), Scopus, Cochrane, Web of science, and BVS databases. The MeSHterms "Fistula," "Oral Fistula," and "Cleft Lip" were used, which were related to each other and with other keywords related to the subject of the review through the "OR" and "AND" operators. The quality of the publications was evaluated according to the guidelines of the Methodological Index for Nonrandomized Studies. RESULTS: After applying the eligibility criteria, a total of 18 articles were selected for the extraction of data and qualitative analysis. CONCLUSION: All publications analyzed in this review reported the fistula treatment at the same surgical time as the bone graft, independently of the donor area, the type of cleft treated and the patient's age at operation. There was no consensus among the studies on the best treatment type for oronasal fistulas located in the alveolar region, and further comparative studies between the existing techniques will be necessary to address this question.

An analysis of third molar mineralization in Brazilian patients with cleft lip and palate.

Purpose: This study investigated the third molar mineralization in patients with cleft lip and palate.Materials and methods: From a total of 253 digital panoramic radiographs from patients with cleft lip and palate within the age range of 7-21 years, 97 radiographs were selected (cleft group). A control group was formed from same sex individuals, without malformation and chronological age matched within 30 days. The analysis of third molar mineralization was carried out by three calibrated examiners using Demirjian's and Nolla's methods. McNemar and Wilcoxon test for paired samples were used for pairwise comparisons between the groups. The Likelihood Ratio test was used to check for an association between the type of cleft and tooth calcification.Results: In both methods, the mineralization means were smaller in the case group than in the control, with significant differences for all third molars (p < .05). The type of cleft affected dental mineralization. There was no significant difference when comparing the left or right sides, but maxillary molars showed earlier mineralization.Conclusions: A significant delay in third molar mineralization was observed in patients with cleft lip and palate according to Demirjian's and Nolla's methods.

Analysis of permanent second molar development in children born with cleft lip and palate

Abstract The study of dental development in individuals born with cleft lip and palate (CLP) serves to determine when orthodontic intervention should start. Objective To evaluate the permanent second molar development in children born with cleft lip and palate according to Demirjian's and Nolla's methods. Methodology Out of a total of 513 digital panoramic radiographs, 113 pairs of children aged 3 to 16 years were selected. The exams were from children born with or without cleft lip and palate, of the same sex, with an age difference of up to 30 days. The images were analyzed by three examiners and reliability was checked through intra-examiner agreement by the Kappa test. The data were analyzed by Wilcoxon's and Mann-Whitney tests according to each dataset. Results The findings indicated delayed development of the permanent second molars in children with CLP (P<0.001). The development of the right permanent second molar was delayed compared to the left molar in children with CLP. Moreover, mandibular teeth showed significantly earlier development than maxillary teeth in both the case and control groups. There was no significant difference in the development of permanent second molars between sexes. Conclusion Children with CLP presented delay in the development of permanent second molars.

Associação entre padrão de crescimento facial e dimensão de orofaringe / Association between facial growth pattern and oropharynx dimension

Este estudo objetivou investigar a associação entre estenose de naso e orofaringe com o padrão de desenvolvimento facial. Selecionou-se 96 telerradiografias laterais digitais, pré-tratamento ortodôntico, faixa etária de 8 a 14 anos. Para a determinação do padrão facial foram utilizados o índice Vert de Riketts e o quociente de Jarabak. Os dados foram analisados através do Statistical Package for Social Sciences 20 (SPSS). O teste qui-quadrado foi utilizado nos cruzamentos das variáveis naso e orofaringe com tipo facial. Para analisar a concordância intraexaminador, foi realizado o teste Kappa. Segundo a classificação de Ricketts, a maioria da amostra consiste em pacientes com padrão dolicofacial, enquanto que, segundo análise Jarabak, na mesma amostra, a predominância foi do padrão braquifacial. Ao analisar as condições das vias aéreas, observou-se uma relação significativa entre estenose de nasofaringe e o perfil dolicofacial, quando classificado por Jarabak. Usando a classificação de Ricketts, essa mesma associação não foi observada. Considerando-se a orofaringe, não foram encontradas associações estatisticamente significantes com o padrão facial. Houve divergência na classificação do padrão facial de crescimento quando comparadas as análises de Ricketts e Jarabak; ao analisar as dimensões das vias aéreas, associada ao padrão facial, observou-se uma relação significativa entre o estreitamento da nasofaringe e o perfil dolicocefálico, quando classificado por Jarabak. O mesmo não foi evidenciado ao utilizar-se a classificação de Ricketts. Considerando-se a orofaringe, não houve associação desta com nenhuma das classificações de padrão facial utilizadas neste trabalho de pesquisa. (AU)

This study aimed to investigate the association between naso stenosis and oropharynx with facial development pattern. We selected 96 lateral digital teleradiographs, pre-orthodontic treatment, age range from 8 to 14 years old. The Riketts Vert index and the Jarabak quotient were used to determine the facial pattern. Data were analyzed through the Statistical Package for Social Sciences 20 (SPSS). The chi-square test was used in the naso and oropharyngeal variables crossing with facial type. To analyze the intra-examiner agreement, the Kappa test was performed. According to Ricketts classification, the majority of the sample consists of patients with a dolichofacial pattern, whereas according to Jarabak, in the same sample, the predominance was brachyfacial. When analyzing the airway conditions, there was a significant relationship between nasopharyngeal stenosis and the dolichofacial profile, when classified by Jarabak. Using the Ricketts classification, the same association was not observed. Considering the oropharynx, no statistically significant associations were found with the facial pattern. There was divergence in the classification of facial growth pattern when comparing the Ricketts and Jarabak analyzes; when analyzing the airways dimensions, associated with facial pattern, a significant relationship was observed between nasopharyngeal narrowing and the dolichocephalic profile, when classified by Jarabak. The same was not evidenced using the Ricketts classification. Considering the oropharynx, there was no association of this with any of the facial pattern classifications used in this research study.(AU)

Assessment of upper airways measurements in patients with mandibular skeletal Class II malocclusion.

OBJECTIVE: Mandibular Class II malocclusions seem to interfere in upper airways measurements. The aim of this study was to assess the upper airways measurements of patients with skeletal Class II malocclusion in order to investigate the association between these measurements and the position and length of the mandible as well as mandibular growth trend, comparing the Class II group with a Class I one. METHODS: A total of 80 lateral cephalograms from 80 individuals aged between 10 and 17 years old were assessed. Forty radiographs of Class I malocclusion individuals were matched by age with forty radiographs of individuals with mandibular Class II malocclusion. McNamara Jr., Ricketts, Downs and Jarabak's measurements were used for cephalometric evaluation. Data were submitted to descriptive and inferential statistical analysis by means of SPSS 20.0 statistical package. Student's t-test, Pearson correlation and intraclass correlation coefficient were used. A 95% confidence interval and 5% significance level were adopted to interpret the results. RESULTS: There were differences between groups. Oropharynx and nasopharynx sizes as well as mandibular position and length were found to be reduced in Class II individuals. There was a statistically significant positive correlation between the size of the oropharynx and Xi-Pm, Co-Gn and SNB measurements. In addition, the size of the nasopharynx was found to be correlated with Xi-Pm, Co-Gn, facial depth, SNB, facial axis and FMA. CONCLUSION: Individuals with mandibular Class II malocclusion were shown to have upper airways measurements diminished. There was a correlation between mandibular length and position and the size of oropharynx and nasopharynx.

Assessment of upper airways measurements in patients with mandibular skeletal Class II malocclusion

Objective: Mandibular Class II malocclusions seem to interfere in upper airways measurements. The aim of this study was to assess the upper airways measurements of patients with skeletal Class II malocclusion in order to investigate the association between these measurements and the position and length of the mandible as well as mandibular growth trend, comparing the Class II group with a Class I one.Methods:A total of 80 lateral cephalograms from 80 individuals aged between 10 and 17 years old were assessed. Forty radiographs of Class I malocclusion individuals were matched by age with forty radiographs of individuals with mandibular Class II malocclusion. McNamara Jr., Ricketts, Downs and Jarabak's measurements were used for cephalometric evaluation. Data were submitted to descriptive and inferential statistical analysis by means of SPSS 20.0 statistical package. Student's t-test, Pearson correlation and intraclass correlation coefficient were used. A 95% confidence interval and 5% significance level were adopted to interpret the results.Results:There were differences between groups. Oropharynx and nasopharynx sizes as well as mandibular position and length were found to be reduced in Class II individuals. There was a statistically significant positive correlation between the size of the oropharynx and Xi-Pm, Co-Gn and SNB measurements. In addition, the size of the nasopharynx was found to be correlated with Xi-Pm, Co-Gn, facial depth, SNB, facial axis and FMA.Conclusion: Individuals with mandibular Class II malocclusion were shown to have upper airways measurements diminished. There was a correlation between mandibular length and position and the size of oropharynx and nasopharynx.

Introdução: as más oclusões de Classe II mandibulares parecem interferir nas dimensões das vias aéreas superiores. Assim, o objetivo do presente estudo foi avaliar as vias aéreas superiores de pacientes com Classe II esquelética, verificando a associação entre essas dimensões e a posição mandibular, o comprimento mandibular e a tendência de crescimento, comparando-os com um grupo pareado de pacientes com Classe I.Métodos: foram avaliadas 80 telerradiografias de perfil de 80 pacientes com 10 a 17 anos de idade, sendo 40 com má oclusão de Classe I e 40 com Classe II mandibular, pareados por idade. Para a avaliação cefalométrica, foram utilizadas medidas de McNamara Jr, Ricketts, Downs e Jarabak. Os dados foram submetidos à análise estatística descritiva e inferencial, por meio dosoftware SPSS 20.0, utilizando-se os testest de Student, coeficiente de correlação de Pearson e coeficiente de correlação intraclasse. Para interpretação dos resultados, adotou-se um intervalo de confiança de 95% e nível de significância de 5%.Resultados: houve diferença entre os grupos, e as medidas da orofaringe e nasofaringe foram menores no grupo de Classe II, assim como as medidas de comprimento e posição mandibular. Houve correlação positiva estatisticamente significativa entre a orofaringe e as medidas Xi-Pm, Co-Gn e SNB; já a nasofaringe apresentou correlação com as medidas Xi-Pm, Co-Gn, profundidade facial, SNB, eixo facial e FMA.Conclusão: indivíduos portadores de Classe II mandibular apresentaram as medidas das vias aéreas superiores diminuídas. Observou-se uma correlação entre o comprimento mandibular e a posição mandibular e as dimensões da orofaringe e da nasofaringe.

A Ortodontia como pilar na reabilitação do paciente com fissura labiopalatina / Orthodontics as a pillar in rehabilitations with cleft palate

As fissuras labiopalatinas são as malformações congênitas mais frequentes na face do ser humano e compromete as estruturas em diversos níveis de complexidade. Em função disso, o seu tratamento envolve uma equipe multidisciplinar da qual a Ortodontia faz parte como um dos pilares. O objetivo do presente artigo é de esclarecer o papel da Ortodontia no processo reabilitador, descrevendo as más oclusões mais comuns associadas à cada tipo de fissura, bem como alguns protocolos de tratamento empregados.

Cleft lip and palate deformities are one of the most common birth defects and it may affect the structures at different levels of complexity. Thus, the treatment involves a multidisciplinary team and the orthodontist has an important function. The aim of this paper is to describe more commons malocclusions related to cleft and some treatments protocols.

Facial growth evaluation of complete unilateral cleft lip and palate operated patients: a cleft reference center in Paraíba, Brazil, using the "GOSLON" yardstick.

OBJECTIVES: To evaluate the surgical outcomes of patients with complete unilateral cleft lip and palate (CUCLP) operated on by a single surgeon of the cleft reference center of the Lauro Wanderley University Hospital at the Federal University of Paraiba. METHODS: Forty-four individuals' dental casts diagnosed with CUCLP, born between 1995 and 2002, mean age of 11 years, were evaluated by three calibrated orthodontic specialists and scored by the Great Ormond Street, London and Oslo (GOSLON) yardstick on two occasions. The scores were compared with those observed in other centers around the world. The Kappa test was applied to evaluate the intra- and inter-examiner agreement. Descriptive statistics was applied for the GOSLON yardsticks core. RESULTS: The mean GOSLON score was 2.75. For the GOSLON yardstick, 43.2 % of the sample presented scores 1 and 2, 31.8 % had score 3, and 25 % were with scores 4 and 5. There was very good intra- and inter-examiner Kappa agreement in the application of the GOSLON yardstick. CONCLUSIONS: The data suggest favorable outcomes, with 75 % of cases with no need of orthognathic surgery. The Kappa values confirmed the high reproducibility of the GOSLON yardstick.

Variáveis relacionadas ao crescimento dos arcos dentários de portadores de fissuras labiopalatinas transforame incisivo unilateral / Variables related to the growth of the dental arches in patients wit unilateral cleft lip and palate

O presente trabalho tem como objetivo avaliar a associação das variáveis relacionadas às fissuras labiopalatinas transforame incisivo unilateral (FTIU) que interferem no índice de crescimento dos arcos dentários. As variáveis analisadas foram a extensão da fissura, presença de bandeleta de Simonart e idade de realização das cirurgias de queiloplastia e palatoplastia. Foi avaliado o índice de Goslon de 44 modelos de gesso consecutivos, pré-tratamento ortodôntico de indivíduos portadores de FTIU tratados no serviço de fissuras labiopalatinas do Hospital Universitário Lauro Wanderley (HULW) - UFPB, operados pelo mesmo cirurgião. Os modelos foram categorizados por três examinadores, ortodontistas com experiência no tratamento de portadores de fissuras labiopalatinas, previamente calibrados (K=0,905). As variáveis foram cruzadas utilizando se o teste qui quadrado com intervalo de confiança de 5% (p<0,05). As variáveis que demonstraram associação com o índice de Goslon foram a presença de bandeleta de Simonart (p= 0,011) e extensão da fissura (p=0,035), além de haver uma forte associação entre a extensão da fissura e a presença da bandeleta de Simonart (p=0,003). As idades de realização da queiloplastia e da palatoplastia não demonstraram associação estatisticamente significante (p>0,05), concluindo-se que variáveis inerentes à própria fissura podem interferir no prognóstico do crescimento maxilar dos pacientes portadores de FTIU à longo prazo.

This study aims to evaluate the association of variables related to unilateral cleft lip and palate (UCLP) that interfere in the growth rate of the dental arches. The variables analyzed were the extent of the fissure, the presence of bandeleta Simonart, cheiloplasty day of age and palatoplasty. It was assessed in plaster models of 44 consecutive7, pre-orthodontic treatment of individuals with UCLP treated cleft lip and palate service in the University Hospital Lauro Wanderley (HULW) - UFPB, operated by the same surgeon.The models were evaluated by three examiners, orthodontist with experience in treating patients with cleft lip and palate (K=0,905). The variables were combined using the chi square confidence interval p<0.05. The variables that showed association with the index were the presence of Goslon bandeleta of Simonart (p = 0.011) and the extent of the fissure (p = 0.035), and there is a strong association between the extent of the fissure and the presence of bandeleta Simonart (p=0.003). The ages of achievement of cheiloplasty and palatoplasty showed no statistically significant association (p> 0.05). It was concluded that variables inherent in the cleft can interfere in the prognosis of maxillary growth in patients with long-term UCLP.

Cisto dermóide no ovário: relato de um caso / Ovarian dermoid cyst: report of a case

Os autores relatam um caso de cisto dermóide em uma paciente de 21 anos, do sexo feminino. Sao apresentados aspectos clínicos, achados macroscópicos e microscópicos, com ênfase para a estrutura do dente, os quais complementam a fundamentaçao do diagnóstico.